Hereditary hemorrhagic telangiectasia with pulmonary hypertension: a report of three cases

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder characterized by multisystem vascular malformations, with a low prevalence worldwide. Pulmonary hypertension (PH), a grave complication of HHT, is associated with a poor prognosis. At present, an agreed approach to the management of HHT in patients with PH is not available. The report herein details the diagnostic and therapeutic processes of three patients with HHT complicated by PH, with the aim of providing clinical insights for practitioners.

The following report details three cases of HHT with PH. All three patients had a history of recurrent epistaxis, as well as dilated blood vessels in the skin and mucous membranes. Consequently, all patients underwent right heart catheterisation (RHC), a procedure that confirmed the diagnosis of PH in all cases. Following diagnosis, Case 1 received treatment consisting of bevacizumab in conjunction with tadalafil and macitentan, Case 2 was treated with thalidomide in combination with sildenafil and macitentan, and Case 3 received a combination of sildenafil and ambrisentan. A family history of disease was identified in all three cases, with Case 1 and Case 2 exhibiting a family history of mutations in the ACVRL1 gene. Patients were followed over a period of six months, resulting in a variety of clinical outcomes, with Case 3 succumbing during the follow-up period. These cases underscore the challenges in diagnosis and the necessity of diverse therapeutic approaches for the management of HHT-PH.

The combination of HHT and PH is associated with a poor prognosis and limited treatment options. For patients who do not respond well to targeted drug therapy, the administration of antiangiogenic drugs in combination is recommended. It is imperative for healthcare professionals to exercise heightened suspicion of the diagnosis in patients with PH and telangiectasia of the skin and mucous membranes, and to undertake a comprehensive investigation into the family history. The implementation of genetic testing is crucial to mitigate the occurrence of missed diagnoses and misdiagnoses of this disease.